Hepatic lipase (HL) deficiency is a rare genetic disorder that has been associated with premature atherosclerosis despite high plasma high-density lipoprotein (HDL) cholesterol concentrations in the affected individuals. The authors describe the clinical and biochemical features of HL deficiency in a young male of Middle-Eastern-Arabic origin. This is the first report of cholesterol ester transfer protein (CETP) activity and mass in HL deficiency in a patient from this ethnic group. While the CETP mass was high, its activity was low, a discrepancy likely due to the abnormal composition of patient's HDL particles.
Al Riyami N, Al-Ali AM, Al-Sarraf AJ, Hill J, Sachs-Barrable K, Hegele R, Wasan KM, Frohlich J (2010) Hepatic lipase deficiency in a Middle-Eastern-Arabic male. BMJ Case Rep
Al Riyami N, Al-Ali AM, Al-Sarraf AJ, Hill J, Sachs-Barrable K, Hegele R, Wasan KM, Frohlich J (2010) BMJ Case Rep